view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KMT2A_chr11_118431492_118531832 | 118497000 | CGGAGTTT others(19): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 198 | 0.0051 | -26 | c.566 others(43): Show |
KMT2A | ENSG00000118058.25 | transcript | ENST00000534358.8 | protein_coding | 20/35 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152290282 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02717.hp1 NA21309.hp1 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0020 a0002c0004t0002g0027 |
2 | 159 | 0.0126 | -26 | c.850 others(45): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152297051 | AAGACAGA others(19): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG01928.hp2 HG02135.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007 | a0002c0002t0002g0018 a0002c0002t0002g0055 a0002c0002t0002g0068 others(5): Show |
8 | 114 | 0.0702 | -26 | c.849 others(45): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152417939 | CCCTCTTT others(19): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00735.hp2 others(32): Show |
a0002a0012a0014others(2): Show | a0002c0002a0002c0004a0002c0011others(5): Show | a0002c0002t0002a0002c0002t0007a0002c0004t0002others(6): Show | a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0053 others(32): Show |
35 | 170 | 0.2059 | -26 | c.161 others(45): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | |||||||
KMT2E_chr7_105009205_105120019 | 105071592 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 298 | 0.0034 | -26 | c.498 others(43): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KMT5C_chr19_55334876_55353121 | 55338494 | GTCTCTGT others(19): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(141): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(35): Show |
144 | 358 | 0.4022 | -26 | c.-16 others(37): Show |
KMT5C | ENSG00000133247.14 | transcript | ENST00000255613.8 | protein_coding | 1381 | chr19 | TogoVar | |||||||
KMT5C_chr19_55334876_55353121 | 55338533 | TCTCTCTC others(19): Show |
T | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 400 | 0.0025 | -26 | c.-15 others(37): Show |
KMT5C | ENSG00000133247.14 | transcript | ENST00000255613.8 | protein_coding | 1342 | chr19 | TogoVar | |||||||
KNDC1_chr10_133155219_133231412 | 133169638 | AGTGGCCT others(19): Show |
A | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0068 | a0001c0068t0002 | a0001c0068t0002g0116 | 1 | 330 | 0.0030 | -26 | c.360 others(43): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KNL1_chr15_40589249_40669342 | 40617975 | TAAAAAAA others(19): Show |
T | intron_variant | MODIFIER | HG02300.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0189 | 1 | 54 | 0.0185 | -26 | c.323 others(41): Show |
KNL1 | ENSG00000137812.21 | transcript | ENST00000399668.7 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
KNOP1_chr16_19696937_19723227 | 19707712 | ACACTCCC others(19): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0117 a0001c0001t0006g0030 |
3 | 370 | 0.0081 | -26 | c.106 others(43): Show |
KNOP1 | ENSG00000103550.14 | transcript | ENST00000219837.12 | protein_coding | 4/4 | chr16 | TogoVar | |||||||
KNOP1_chr16_19696937_19723227 | 19708013 | AGCACACC others(19): Show |
A | intron_variant | MODIFIER | NA19062.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0157 | 1 | 370 | 0.0027 | -26 | c.106 others(43): Show |
KNOP1 | ENSG00000103550.14 | transcript | ENST00000219837.12 | protein_coding | 4/4 | chr16 | TogoVar | |||||||
KNTC1_chr12_122522249_122631396 | 122579025 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00609.hp1 others(24): Show |
a0001a0004a0010others(1): Show | a0001c0001a0001c0002a0001c0026others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0026t0001others(3): Show | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0002t0001g0039 others(24): Show |
27 | 28 | 0.9643 | -26 | c.284 others(43): Show |
KNTC1 | ENSG00000184445.12 | transcript | ENST00000333479.12 | protein_coding | 31/63 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KPNA5_chr6_116676211_116746867 | 116732074 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG03017.hp2 HG03486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0027 | a0001c0001t0003g0197 a0001c0001t0006g0105 a0001c0001t0006g0121 others(4): Show |
7 | 18 | 0.3889 | -26 | c.143 others(41): Show |
KPNA5 | ENSG00000196911.12 | transcript | ENST00000368564.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KPNA6_chr1_32103056_32181563 | 32141375 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp2 others(60): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(12): Show | a0001c0001t0001g0038 a0001c0001t0002g0007 a0001c0001t0002g0008 others(60): Show |
63 | 76 | 0.8289 | -26 | c.5-1 others(41): Show |
KPNA6 | ENSG00000025800.14 | transcript | ENST00000373625.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KPNA7_chr7_99168572_99213115 | 99207613 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0306 | 1 | 16 | 0.0625 | -26 | c.-23 others(41): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
KPNA7_chr7_99168572_99213115 | 99210830 | TCCCCCTC others(19): Show |
T | upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 331 | 0.0030 | -26 | c.-28 others(37): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 2716 | chr7 | TogoVar | |||||||
KPNB1_chr17_47644919_47690505 | 47666459 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0311 | 1 | 382 | 0.0026 | -26 | c.999 others(43): Show |
KPNB1 | ENSG00000108424.11 | transcript | ENST00000290158.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KRAS_chr12_25200246_25255929 | 25225286 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(178): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(155): Show |
181 | 196 | 0.9235 | -26 | c.450 others(41): Show |
KRAS | ENSG00000133703.14 | transcript | ENST00000256078.10 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
KRBA2_chr17_8353822_8381704 | 8363841 | ATATATAT others(19): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0063 | 1 | 386 | 0.0026 | -26 | c.*52 others(37): Show |
KRBA2 | ENSG00000184619.8 | transcript | ENST00000396267.3 | protein_coding | 2/2 | 5267 | chr17 | TogoVar | ||||||
KRBOX5_chr16_31708244_31766565 | 31735078 | TTTTCTCT others(19): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 |
3 | 371 | 0.0081 | -26 | c.226 others(45): Show |
KRBOX5 | ENSG00000197302.11 | transcript | ENST00000316491.14 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29115195 | ACATTGTA others(19): Show |
A | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 366 | 0.0027 | -26 | c.353 others(43): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | chr22 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29131572 | GTGTGTGT others(19): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG06807.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0053a0001c0001t0054 | a0001c0001t0035g0294 a0001c0001t0035g0299 a0001c0001t0053g0293 others(1): Show |
4 | 366 | 0.0109 | -26 | c.632 others(43): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29131692 | ATATATGT others(19): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp1 NA19043.hp1 |
a0001 | a0001c0005 | a0001c0005t0031a0001c0005t0050 | a0001c0005t0031g0242 a0001c0005t0031g0243 a0001c0005t0050g0233 |
3 | 366 | 0.0082 | -26 | c.632 others(43): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29141235 | GTGTGTGT others(19): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG06807.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0054 | a0001c0001t0035g0294 a0001c0001t0035g0299 a0001c0001t0054g0129 |
3 | 366 | 0.0082 | -26 | c.120 others(43): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KRR1_chr12_75485863_75516609 | 75513854 | TATTTTGG others(19): Show |
T | upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 366 | 0.0027 | -26 | c.-22 others(37): Show |
KRR1 | ENSG00000111615.14 | transcript | ENST00000229214.9 | protein_coding | 2246 | chr12 | TogoVar | |||||||
KRT23_chr17_40917700_40942646 | 40941128 | AAATACTG others(19): Show |
A | upstream_gene_variant | MODIFIER | NA19058.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0046 | 1 | 436 | 0.0023 | -26 | c.-41 others(37): Show |
KRT23 | ENSG00000108244.17 | transcript | ENST00000209718.8 | protein_coding | 3483 | chr17 | TogoVar | |||||||
KRT24_chr17_40692991_40708752 | 40701723 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG02040.hp1 HG02895.hp2 HG02896.hp2 others(1): Show |
a0001a0006a0009 | a0001c0001a0006c0006a0009c0012 | a0001c0001t0001a0006c0006t0001a0009c0012t0001 | a0001c0001t0001g0076 a0006c0006t0001g0096 a0006c0006t0001g0097 others(1): Show |
4 | 71 | 0.0563 | -26 | c.698 others(41): Show |
KRT24 | ENSG00000167916.5 | transcript | ENST00000264651.3 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
KRT28_chr17_40787196_40804959 | 40799586 | TTATCCAG others(19): Show |
T | frameshift_variant | HIGH | NA19077.hp1 | a0013 | a0013c0015 | a0013c0015t0001 | a0013c0015t0001g0039 | 1 | 464 | 0.0022 | -26 | c.282 others(33): Show |
p.Asn others(4): Show |
KRT28 | ENSG00000173908.9 | transcript | ENST00000306658.8 | protein_coding | 1/8 | 373/1692 | 282/1395 | 94/464 | chr17 | TogoVar | |||
KRTAP12-3_chr21_44652932_44663341 | 44659281 | TCCTAAGC others(19): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(262): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0001a0004c0004t0001 | a0001c0001t0001g0000 a0003c0003t0001g0000 a0004c0004t0001g0000 |
265 | 387 | 0.6848 | -26 | c.*10 others(37): Show |
KRTAP12-3 | ENSG00000205439.10 | transcript | ENST00000397907.1 | protein_coding | 941 | chr21 | TogoVar | |||||||
KRTAP12-4_chr21_44649213_44659659 | 44659281 | TCCTAAGC others(19): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(254): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0002t0001g0000 others(2): Show |
257 | 378 | 0.6799 | -26 | c.-46 others(37): Show |
KRTAP12-4 | ENSG00000212933.1 | transcript | ENST00000391618.1 | protein_coding | 4623 | chr21 | TogoVar | |||||||
KRTAP19-4_chr21_30491824_30502165 | 30498216 | ATGTGTGT others(19): Show |
A | upstream_gene_variant | MODIFIER | HG03669.hp1 HG03688.hp1 HG03831.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0000 | 3 | 31 | 0.0968 | -26 | c.-11 others(37): Show |
KRTAP19-4 | ENSG00000186967.7 | transcript | ENST00000334058.3 | protein_coding | 1052 | chr21 | TogoVar | |||||||
KRTAP19-5_chr21_30496657_30507141 | 30498216 | ATGTGTGT others(19): Show |
A | downstream_gene_variant | MODIFIER | HG03669.hp1 HG03688.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 29 | 0.1034 | -26 | c.*36 others(37): Show |
KRTAP19-5 | ENSG00000186977.3 | transcript | ENST00000334151.3 | protein_coding | 3440 | chr21 | TogoVar | |||||||
KRTAP2-1_chr17_41041541_41052316 | 41051204 | ATATATAT others(19): Show |
A | upstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 398 | 0.0025 | -26 | c.-39 others(37): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3889 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41051204 | ATATATAT others(19): Show |
A | downstream_gene_variant | MODIFIER | NA18997.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0000 | 1 | 402 | 0.0025 | -26 | c.*36 others(37): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3293 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41161749 | TGTGTATG others(19): Show |
T | upstream_gene_variant | MODIFIER | HG03579.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0000 | 1 | 418 | 0.0024 | -26 | c.-10 others(37): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1002 | chr17 | TogoVar | |||||||
KRTAP5-11_chr11_71576855_71587875 | 71578309 | TGTGACCA others(19): Show |
T | downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 462 | 0.0022 | -26 | c.*40 others(37): Show |
KRTAP5-11 | ENSG00000204571.7 | transcript | ENST00000398530.1 | protein_coding | 3545 | chr11 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117692449 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02818.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0032a0001c0001t0074a0001c0001t0076others(1): Show | a0001c0001t0032g0025 a0001c0001t0074g0062 a0001c0001t0076g0061 others(1): Show |
4 | 10 | 0.4000 | -26 | c.987 others(45): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117717666 | GGTGTGTG others(19): Show |
G | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0066 | 1 | 20 | 0.0500 | -26 | c.986 others(45): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117753947 | CGTGTGTG others(19): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0062 | 1 | 45 | 0.0222 | -26 | c.986 others(43): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117947187 | AAAAGAAA others(19): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03098.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0120a0001c0002t0095a0001c0003t0121others(2): Show | a0001c0001t0120g0082 a0001c0002t0095g0168 a0001c0003t0121g0132 others(2): Show |
5 | 176 | 0.0284 | -26 | c.180 others(45): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117958891 | ATATATAG others(19): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00741.hp1 others(91): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(80): Show | a0001c0001t0001g0125 a0001c0001t0001g0152 a0001c0001t0001g0157 others(91): Show |
94 | 194 | 0.4845 | -26 | c.180 others(43): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
KTN1_chr14_55575207_55689579 | 55646090 | TGGACATA others(19): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 others(4): Show |
7 | 312 | 0.0224 | -26 | c.217 others(43): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KYAT1_chr9_128827942_128886950 | 128841902 | ATGAGCCC others(19): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 324 | 0.0031 | -26 | c.201 others(41): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 3/12 | chr9 | TogoVar | |||||||
L1TD1_chr1_62189849_62217328 | 62205373 | TTCTCTCT others(19): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0009 | a0009c0018 | a0009c0018t0023 | a0009c0018t0023g0055 | 1 | 356 | 0.0028 | -26 | c.-11 others(45): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62205395 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0007 | a0007c0016 | a0007c0016t0028 | a0007c0016t0028g0181 | 1 | 412 | 0.0024 | -26 | c.-11 others(45): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L3MBTL3_chr6_130013581_130146438 | 130055639 | CCTCCCTC others(19): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01109.hp1 others(6): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0004a0002c0001t0014 | a0002c0001t0001g0029 a0002c0001t0001g0030 a0002c0001t0001g0031 others(6): Show |
9 | 296 | 0.0304 | -26 | c.667 others(41): Show |
L3MBTL3 | ENSG00000198945.8 | transcript | ENST00000361794.7 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6016989 | AGTGGTAA others(19): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01081.hp1 HG01099.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0026 others(34): Show |
37 | 72 | 0.5139 | -26 | c.144 others(47): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | |||||||
LAIR2_chr19_54497831_54515687 | 54514555 | GTTTTTTT others(19): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01069.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0012a0004c0004t0001others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0044 a0001c0001t0012g0123 others(5): Show |
12 | 51 | 0.2353 | -26 | c.*39 others(37): Show |
LAIR2 | ENSG00000167618.10 | transcript | ENST00000301202.7 | protein_coding | 3869 | chr19 | TogoVar | |||||||
LAMA1_chr18_6936742_7122797 | 7117888 | CCGTCCCG others(19): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02615.hp1 HG02630.hp1 others(4): Show |
a0008a0025a0028others(3): Show | a0008c0163a0025c0135a0028c0009others(3): Show | a0008c0163t0002a0025c0135t0002a0028c0009t0002others(3): Show | a0008c0163t0002g0004 a0025c0135t0002g0112 a0028c0009t0002g0108 others(4): Show |
7 | 276 | 0.0254 | -26 | c.-19 others(35): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 92 | chr18 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 128961318 | GATATATA others(19): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03130.hp1 HG03195.hp1 |
a0002a0013a0029 | a0002c0003a0013c0028a0029c0019 | a0002c0003t0005a0013c0028t0003a0029c0019t0002 | a0002c0003t0005g0011 a0013c0028t0003g0010 a0029c0019t0002g0012 |
3 | 9 | 0.3333 | -26 | c.112 others(45): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |